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A new study into CMT Fatigue:
The University of Nottingham are conducting a study into Fatigue in CMT. Can you spare some time to complete a few questionnaires, to help them learn more about fatigue levels and the impact of Fatigue on lifestyle.
For more information, and to get involved contact Karen Kirkland, Divisional Administrator, on karen.kirkland@nottingham.ac.uk or 01332 724842.
Recruiting Clinical Trials in the UK - click here - NEW projects added
General Information
The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward.
Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.
Researchers say that understanding the differences among the various types of CMT will improve the effectiveness of clinical trials and hasten the development of targeted treatments.
Knowing which mutation a person has also could help doctors better understand the variable nature of the disease, predict its likely course, and provide more specific information about medical management, inheritance patterns (for family planning), and other concerns.
With that aim in mind, a network of centres specializing in the diagnosis and treatment of CMT is being established. While training the next generation of CMT clinical researchers, the centres will collect and record genetic, biologic and other data from people with the disease.
“The goal is to make this an international network of the leading CMT centers where everybody evaluates patients the same way,” says Wayne State neurologist Michael Shy.
CMT database evolves into international network
The new CMT research network is an expansion of the CMT North American Database, which has been collecting information since 2001. More than 800 people are enrolled in the CMT North American Database, which is housed at Indiana University and funded by MDA and the CMT Association.
The database contains information from people with CMT who were evaluated at these institutions:
- Wayne State University in Detroit
- Johns Hopkins University in Baltimore
- University of Washington in Seattle
- Children’s Hospital of Philadelphia — University of Pennsylvania
- Hospital of the University of Pennsylvania in Philadelphia
- University of Rochester (NJ)
- University of Texas Southwestern, Dallas
One of the rare disease clinical research networks created by the NIH was for inherited neuropathies, the class of diseases to which CMT belongs.
In order to expand the network’s reach and enroll as many people as possible in its database, the North American CMT network is joining forces with the new NIH network.
The seven centers listed above all will be part of the Inherited Neuropathies Consortium Rare Disease Clinical Research Network (INC RDCRN). Additional sites joining or already in the consortium are:
Washington University in St. Louis
Vanderbilt University in Nashville, Tenn.
University of Miami
Center for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK
Great Ormond Street Hospital for Children, London
Children’s Hospital Westmead, Sydney, Australia
C. Besta Neurological Institute, Milan, Italy
“We hope the combined registry will provide an international resource for therapeutic trials, gene identification studies and natural history studies, even in the rare types of CMT,” Michael Shy says.
Participating in the INC RDCRN
Researchers are asking anyone with CMT — whether or not they have been evaluated before — to come to one of the above-mentioned locations to be re-evaluated and have biological samples taken.
Currently, three studies are under way through the INC RDCRN:
a natural history study,
a search for modifier genes for CMT1A (the most common form of CMT) and for new genes associated with CMT, and
validation testing of the CMT pediatric score, a recently developed procedure for measuring CMT progression in children
For more information on these studies, please go to the Rare Diseases Clinical Research Network, and click on the link for the Inherited Neuropathies Consortium. Those wishing to stay abreast of developments in these CMT studies may log in to the RDCRN site and join the Patient Contact Registry.
People in the contact registry will receive updates regarding the Inherited Neuropathies Consortium, and may receive information about clinical trials in CMT that come out of this consortium. Those registered will be invited to participate in studies for which they qualify.
Page updated on 21/11/2011
